The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome
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DOI：
10.1111/epi.13222
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发表时间：
2015-12-01
期刊：
影响因子：
5.6
通讯作者：
Moller, Rikke Steensbjerre
中科院分区：
文献类型：
--
作者：
Larsen, Jan;Johannesen, Katrine Marie;Moller, Rikke Steensbjerre
SLC2A1编码血脑屏障的葡萄糖转运蛋白1型（GLUT1），首次发现突变与严重的癫痫性脑病有关。最近，SLC2A1显性突变在罕见的常染色体显性家族中被发现，这些家族患有各种形式的癫痫，包括早发性缺失癫痫（EOAE）、肌阵挛性失稳性癫痫（MAE）和遗传性全身性癫痫（GGE）。我们的研究旨在探讨SLC2A1在包括MAE和早发性缺失癫痫在内的各种形式的癫痫中的可能作用。我们还旨在估计丹麦人群中GLUT1缺乏症的频率。120名MAE患者、50名缺失性癫痫患者和37名非选择性癫痫、智力残疾（ID）和/或各种运动障碍患者进行了SLC2A1突变筛查。50例缺失性癫痫患者中有5例（10%）检测到SLC2A1突变，37例非选择性癫痫、ID和/或各种运动障碍患者中有1例（2.7%）检测到SLC2A1突变。120例MAE患者中没有一例携带SLC2A1突变。我们估计丹麦人群中SLC2A1突变的频率约为1:8万3千。我们的研究证实了SLC2A1突变在早发性失神癫痫中的作用。然而，我们的研究未能支持SLC2A1畸变是没有运动障碍等相关特征的MAE的原因这一观点。
The first mutations identified in SLC2A1, encoding the glucose transporter type 1 (GLUT1) protein of the blood-brain barrier, were associated with severe epileptic encephalopathy. Recently, dominant SLC2A1 mutations were found in rare autosomal dominant families with various forms of epilepsy including early onset absence epilepsy (EOAE), myoclonic astatic epilepsy (MAE), and genetic generalized epilepsy (GGE). Our study aimed to investigate the possible role of SLC2A1 in various forms of epilepsy including MAE and absence epilepsy with early onset. We also aimed to estimate the frequency of GLUT1 deficiency syndrome in the Danish population. One hundred twenty patients with MAE, 50 patients with absence epilepsy, and 37 patients with unselected epilepsies, intellectual disability (ID), and/or various movement disorders were screened for mutations in SLC2A1. Mutations in SLC2A1 were detected in 5 (10%) of 50 patients with absence epilepsy, and in one (2.7%) of 37 patient with unselected epilepsies, ID, and/or various movement disorders. None of the 120 MAE patients harbored SLC2A1 mutations. We estimated the frequency of SLC2A1 mutations in the Danish population to be approximately 1:83,000. Our study confirmed the role of SLC2A1 mutations in absence epilepsy with early onset. However, our study failed to support the notion that SLC2A1 aberrations are a cause of MAE without associated features such as movement disorders.